Q14331 (FRG1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein FRG1

Alternative name(s):
FSHD region gene 1 protein

Gene names

Name:

FRG1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	258 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May have a role in processing of pre-rRNA or in the assembly of rRNA into ribosomal subunits. May be involved in pre-mRNA splicing.
Subunit structure	Identified in the spliceosome C complex. Ref.7
Subcellular location	Nucleus › Cajal body. Nucleus speckle. Nucleus › nucleolus. Note: First expressed in Cajal bodies and nuclear speckles. As speckle expression diminishes, expression is seen in dense structures (dense fibrillar component and the granular component) of the nucleolus. Ref.6
Tissue specificity	Expressed in adult muscle, lymphocytes, fetal brain, muscle, and placenta.
Sequence similarities	Belongs to the FRG1 family.

Ontologies

Keywords
Biological process	Ribosome biogenesis mRNA processing mRNA splicing rRNA processing
Cellular component	Nucleus Spliceosome
Coding sequence diversity	Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	mRNA splicing, via spliceosome Inferred by curator Ref.7. Source: UniProtKB rRNA processing Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	Cajal body Inferred from electronic annotation. Source: UniProtKB-SubCell catalytic step 2 spliceosome Inferred from direct assay Ref.7. Source: UniProtKB nuclear speck Inferred from electronic annotation. Source: UniProtKB-SubCell nucleolus Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 258	258	Protein FRG1		PRO_0000220767
Regions
	Motif	22 – 32	11	Nuclear localization signal Potential
	Motif	235 – 251	17	Bipartite nuclear localization signal Potential
	Compositional bias	8 – 32	25	Lys-rich
Natural variations
	Natural variant	19	1	T → A. Corresponds to variant rs17797703 [ dbSNP | Ensembl ].		VAR_049105
	Natural variant	66	1	K → E. Corresponds to variant rs17406826 [ dbSNP | Ensembl ].		VAR_033938

Sequences

	Sequence		Length	Mass (Da)
	Q14331 [UniParc]. Last modified November 1, 1996. Version 1. Checksum: FFBC981B7602BDB3	FASTA	258	29,172
	10 20 30 40 50 60 MAEYSYVKST KLVLKGTKTK SKKKKSKDKK RKREEDEETQ LDIVGIWWTV TNFGEISGTI 70 80 90 100 110 120 AIEMDKGTYI HALDNGLFTL GAPHKEVDEG PSPPEQFTAV KLSDSRIALK SGYGKYLGIN 130 140 150 160 170 180 SDGLVVGRSD AIGPREQWEP VFQNGKMALL ASNSCFIRCN EAGDIEAKSK TAGEEEMIKI 190 200 210 220 230 240 RSCAERETKK KDDIPEEDKG NVKQCEINYV KKFQSFQDHK LKISKEDSKI LKKARKDGFL 250 HETLLDRRAK LKADRYCK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35." van Deutekom J.C.T., Lemmers R.J.L.F., Grewal P.K., van Geel M., Romberg S., Dauwerse H.G., Wright T.J., Padberg G.W., Hofker M.H., Hewitt J.E., Frants R.R. Hum. Mol. Genet. 5:581-590(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements." van Geel M., Heather L.J., Lyle R., Hewitt J.E., Frants R.R., de Jong P.J. Genomics 61:55-65(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Skeletal muscle.
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Uterus.
[6]	"FRG1P is localised in the nucleolus, Cajal bodies, and speckles." van Koningsbruggen S., Dirks R.W., Mommaas A.M., Onderwater J.J., Deidda G., Padberg G.W., Frants R.R., van der Maarel S.M. J. Med. Genet. 41:E46-E46(2004) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION.
[7]	"Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis." Jurica M.S., Licklider L.J., Gygi S.P., Grigorieff N., Moore M.J. RNA 8:426-439(2002) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE SPLICEOSOMAL C COMPLEX.
[8]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	L76159 mRNA. Translation: AAA95939.1. AF146191 Genomic DNA. Translation: AAD46768.1. AK291890 mRNA. Translation: BAF84579.1. CH471056 Genomic DNA. Translation: EAX04600.1. BC053997 mRNA. Translation: AAH53997.1.
IPI	IPI00004655.
RefSeq	NP_004468.1. NM_004477.2.
UniGene	Hs.203772.
3D structure databases
ProteinModelPortal	Q14331.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q14331. 1 interaction.
STRING	9606.ENSP00000226798.
PTM databases
PhosphoSite	Q14331.
Polymorphism databases
DMDM	18202499.
Proteomic databases
PaxDb	Q14331.
PeptideAtlas	Q14331.
PRIDE	Q14331.
Protocols and materials databases
DNASU	2483.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000226798; ENSP00000226798; ENSG00000109536. ENST00000564393; ENSP00000454708; ENSG00000260380.
GeneID	2483.
KEGG	hsa:2483.
UCSC	uc003izs.3. human.
Organism-specific databases
CTD	2483.
GeneCards	GC04P190861.
H-InvDB	HIX0058694. HIX0176447.
HGNC	HGNC:3954. FRG1.
MIM	601278. gene.
neXtProt	NX_Q14331.
Orphanet	269. Facioscapulohumeral dystrophy.
PharmGKB	PA28372.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG289849.
HOGENOM	HOG000007130.
HOVERGEN	HBG018564.
InParanoid	Q14331.
KO	K13122.
OMA	KFQKFQD.
OrthoDB	EOG4FTW1K.
PhylomeDB	Q14331.
Gene expression databases
ArrayExpress	Q14331.
Bgee	Q14331.
CleanEx	HS_FRG1.
Genevestigator	Q14331.
GermOnline	ENSG00000109536. Homo sapiens.
Family and domain databases
InterPro	IPR008999. Actin_cross-linking. IPR010414. FRG1. [Graphical view]
PANTHER	PTHR12928. PTHR12928. 1 hit.
Pfam	PF06229. FRG1. 1 hit. [Graphical view]
SUPFAM	SSF50405. Actin_crosslink. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	FRG1. human.
GenomeRNAi	2483.
NextBio	9821.
SOURCE	Search...

Entry information

Entry name

FRG1_HUMAN

Accession

Primary (citable) accession number: Q14331
Secondary accession number(s): A8K775

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2001
Last sequence update:	November 1, 1996
Last modified:	May 1, 2013
This is version 112 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.